Canonical Allele Identifier: CA412203022
Gene: CHKB HGNC NCBI
CHKB-CPT1B HGNC NCBI

Linked Data

dbSNP Id: rs2070721406
gnomAD v4: 22-50582576-A-C
MyVariant Identifiers: chr22:g.51021005A>C (hg19) chr22:g.50582576A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50582576A>C , CM000684.2:g.50582576A>C GRCh38
NC_000022.10:g.51021005A>C , CM000684.1:g.51021005A>C GRCh37
NC_000022.9:g.49367871A>C NCBI36
NG_012643.1:g.1092T>G
NG_029213.1:g.5424T>G , LRG_855:g.5424T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000406938.3:c.206T>G (CHKB) MANE Select ENSP00000384400.3:p.Leu69Arg
ENST00000406938.2:c.206T>G (CHKB) ENSP00000384400.2:p.Leu69Arg
ENST00000463053.1:n.307-219T>G (CHKB)
ENST00000476289.5:n.279T>G (CHKB)
ENST00000479003.5:n.245T>G (CHKB)
ENST00000481673.5:n.270T>G (CHKB)
ENST00000484266.5:n.249T>G (CHKB)
ENST00000492556.5:n.390T>G (CHKB-CPT1B)
ENST00000492582.5:n.279T>G (CHKB)
NM_005198.4:c.206T>G , LRG_855t1:c.206T>G (CHKB) NP_005189.2:p.Leu69Arg
NR_027928.2:n.424T>G (CHKB-CPT1B)
NM_005198.5:c.206T>G (CHKB) MANE Select NP_005189.2:p.Leu69Arg
Search 100 bp 5'
Search 100 bp 3'